Table 2.
PIN4 genotyping of SNP Rs7058353 in unrelated patients with PBC and controls and in 20 sets of sisters of similar age discordant for PBC
| PBC | Controls | |
| Unrelated subjects | ||
| C/C | 3/114 | 0/118 |
| C/A | 9/114 | 7/118 |
| A/A* | 102/114 | 111/118 |
| A allele frequency | 0.934 | 0.970 |
| Siblings | ||
| C/C | 0/20 | 0/20 |
| C/A | 2/20 | 2/20 |
| A/A* | 18/20 | 18/20 |
| A allele frequency | 0.950 | 0.950 |
The presence of this SNP determines 11 CpG sites, instead of the original 13. Gentoype and allele frequencies did not differ significantly between patients and related or unrelated controls.
*
Allele frequency in Caucasian-European population 0.966 (NCBI SNP database).